{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404315986", "communityStandardTitle": [ "NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972330[alleleid]", "alleleId": 972330, "preferredName": "NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984311", "RCV": [ "RCV001264321" ], "variationId": 984311 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13002962G>T?assembly=hg19", "id": "chr19:g.13002962G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12892148G>T?assembly=hg38", "id": "chr19:g.12892148G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/976647697", "rs": 976647697 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12892148, 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], "proteinEffect": { "hgvs": "ENSP00000465770.1:p.Glu90Ter", "hgvsWellDefined": "ENSP00000465770.1:p.Glu90Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391110" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "+", "endIntronOffset": 174, "referenceAllele": "G", "start": 348, "startIntronDirection": "+", "startIntronOffset": 173 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000589039.5:c.271+174G>T" ], "proteinEffect": { "hgvs": "ENSP00000465618.1:n.271+174G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391208" }, { "coordinates": [ { "allele": "T", "end": 342, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "G", "start": 342, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.272-169G>T" ], 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"ENSP00000466845.1:p.Glu102Ter", "hgvsWellDefined": "ENSP00000466845.1:p.Glu102_Lys438delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392892" }, { "@id": "http://reg.genome.network/allele/PA2825069792", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.3:c.304G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu102Ter", "hgvsWellDefined": "NP_000150.1:p.Glu102_Lys438delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA1139728747", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.304G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu102Ter", "hgvsWellDefined": "NP_039663.1:p.Glu102_Leu428delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032843" }, { "coordinates": [ { "allele": "T", "end": 379, "endIntronDirection": "-", "endIntronOffset": 168, "referenceAllele": "G", "start": 379, "startIntronDirection": "-", "startIntronOffset": 169 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102316.1:n.380-169G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052774" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102317.1:n.720G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052775" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_006722721.2:c.304G>T" ], "proteinEffect": { 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"XP_006722784.1:p.Glu102_Arg442delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.304G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu102Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu102_Ser446delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.304G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu102Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu102_Trp443delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.304G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu102Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu102_Ser446delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.304G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu102Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu102_Trp443delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.304G>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Glu102Ter", "hgvsWellDefined": "XP_016882069.1:p.Glu102_Arg442delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825069792", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.304G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu102Ter", "hgvsWellDefined": "NP_000150.1:p.Glu102_Lys438delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.304G>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.304G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Glu102Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Glu102Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139728747", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.304G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu102Ter", "hgvsWellDefined": "NP_039663.1:p.Glu102_Leu428delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA1139728747", "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.304G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu102Ter", "hgvsWellDefined": "NP_039663.1:p.Glu102_Leu428delinsLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }